Chapter 14 - Diagnosis of multiple sclerosis
Introduction
In the absence of pathognomonic symptomatology or definitive laboratory tests, multiple sclerosis (MS) continues to pose a diagnostic challenge to clinicians. Dating back to the observations of Jean-Martin Charcot (1868), the diagnosis of MS has required the presence of multiple white-matter lesions in the central nervous system (CNS) that are disseminated in both space and time. Evidence for the presence of such white-matter lesions can be based on clinical history, on neurologic examination, or on paraclinical data such as that from magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, or the recording of evoked potentials. Clinical evidence for dissemination in space can be derived from neurologic examination demonstrating abnormalities indicative of involvement of at least two separate areas in the CNS. Furthermore, a history of two or more clinical attacks (exacerbations) provides definitive clinical evidence for dissemination in time. Frequently, however, history and examination fail to meet diagnostic criteria, resulting in the need for paraclinical data to provide supportive evidence of the diagnosis. Consequently, clinicians must be well versed in both the common and uncommon clinical manifestations in order to diagnose MS properly. Because the diagnosis requires the exclusion of alternative disorders, clinicians must also have a broad knowledge of the differential diagnostic entities that can mimic MS. Moreover, they should be familiar with the current established diagnostic criteria defined by international expert consensus (Polman et al., 2011) and their application in clinical practice.
The ultimate goal for clinicians should be to establish an accurate diagnosis as early as possible. With the continuing emergence of effective therapies, early diagnosis can permit the expeditious initiation of disease-modifying treatments with the primary goal of altering the long-term disease course and improving patients’ quality of life.
Section snippets
Clinical manifestations
The common clinical features of MS have been reviewed by numerous previous authors (Muller, 1949, Kurtzke, 1970, Matthews, 1985, Paty, 2000). Nevertheless, even with such widespread knowledge about MS, approximately 5–10% of patients diagnosed with MS do not actually have the disease (Herndon and Brooks, 1985, Engell, 1998), underscoring the need for clinicians to be cautious. Because of the protean nature of its potential clinical manifestations of CNS dysfunction, MS can present with symptoms
Diagnostic criteria
The diagnostic criteria for MS have continued to evolve over the past 40 years, beginning with Schumacher et al.’s initial scheme established in 1965. This classification (Table 14.2) identified patients as “clinically definite, probable or possible” MS. In addition to the requirement of dissemination in space and time, these criteria included the onset between ages 10 and 50, the presence of objective neurologic signs, predominant evidence of CNS white-matter disease, and the exclusion of
MS courses and variants
Once the diagnosis is made, the type of MS should be categorized because disease course often dictates the appropriate therapy. In 1996, definitions for the most common clinical patterns were proposed (Lublin and Reingold, 1996) (Fig. 14.2). Four types of patterns were described: relapsing-remitting (RR) MS, secondary progressive (SP) MS, primary progressive (PP) MS, and progressive-relapsing (PR) MS. Patients with RRMS, which accounts for approximately 85% of MS patients at onset, experience
Differential diagnosis
The differential diagnosis of MS is extensive and includes infectious, inflammatory, toxic-metabolic, genetic, neoplastic, neurodegenerative, and vascular etiologies. While several of these disease processes share common clinical and paraclinical features with MS, unique differences may facilitate narrowing the diagnostic possibilities (Miller et al., 2008). In the absence of stigmata reflecting other disorders, it is arguable whether any laboratory investigations are warranted in patients
Conclusion
While the differential diagnosis of MS can be extremely challenging to clinicians, a detailed history, neurologic examination, and careful review of imaging and laboratory studies are the most important means to narrow diagnostic considerations and tailor an appropriate workup. The presence of atypical historic, clinical, and paraclinical findings should alert physicians to the prospect of an alternative diagnosis and need for further evaluations. At follow-up, the diagnosis of possible or
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New methods of posturographic data analysis may improve the diagnostic value of static posturography in multiple sclerosis
2021, HeliyonCitation Excerpt :Magnetic resonance imaging is the main diagnostic method in MS diagnosis and therapeutic monitoring (Doshi and Chataway, 2016). Diagnosis can be additionally clarified by paraclinical data of evoked potentials (eg. visual or sensory) and results of the cerebrospinal fluid analysis (Doshi and Chataway, 2016; Deangelis and Miller 2014). Also, the static posturography revealed to be valuable in the MS clinic, particularly in the diagnosis of motor dysfunctions related to falls (Boes et al., 2012; Cameron and Lord, 2010; Inojosa et al., 2020a,b; Kalron et al., 2016a,b; Nilsagård et al., 2009; Pau et al., 2017; Prosperini et al., 2013; Prosperini and Castelli, 2018) Simplicity and safety of static posturographic tests make it attractive for use in the neurological clinic.
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